chr17:43124030:CT> Detail (hg38) (BRCA1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr17:41,276,047-41,276,048
hg38	chr17:43,124,030-43,124,031

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007294.3:c.66_67delAG	NP_009225.1:p.Glu23ValfsTer17
	NM_007299.3:c.66_67delAG	NP_009230.2:p.Glu23ValfsTer17
	NM_007300.3:c.66_67delAG	NP_009231.2:p.Glu23ValfsTer17
	NM_007298.3:c.66_67delAG	NP_009229.2:p.Glu23ValfsTer17
	NM_007297.3:c.-21_-22delAG
Ensemble	ENST00000494123.6:c.66_67delAG	ENST00000494123.6:p.Glu23ValfsTer17
	ENST00000352993.7:c.66_67delAG	ENST00000352993.7:p.Glu23ValfsTer17
	ENST00000357654.9:c.66_67delAG	ENST00000357654.9:p.Glu23ValfsTer17
	ENST00000461574.2:c.66_67delAG	ENST00000461574.2:p.Glu23ValfsTer17
	ENST00000468300.5:c.66_67delAG	ENST00000468300.5:p.Glu23ValfsTer17
	ENST00000470026.6:c.66_67delAG	ENST00000470026.6:p.Glu23ValfsTer17
	ENST00000471181.7:c.66_67delAG	ENST00000471181.7:p.Glu23ValfsTer17
	ENST00000473961.6:c.66_67delAG	ENST00000473961.6:p.Glu23ValfsTer17
	ENST00000476777.6:c.66_67delAG	ENST00000476777.6:p.Glu23ValfsTer17
	ENST00000477152.6:c.66_67delAG	ENST00000477152.6:p.Glu23ValfsTer17
	ENST00000478531.6:c.66_67delAG	ENST00000478531.6:p.Glu23ValfsTer17
	ENST00000484087.6:c.66_67delAG	ENST00000484087.6:p.Glu23ValfsTer17
	ENST00000489037.2:c.66_67delAG	ENST00000489037.2:p.Glu23ValfsTer17
	ENST00000491747.6:c.66_67delAG	ENST00000491747.6:p.Glu23ValfsTer17
	ENST00000493795.5:c.-21_-22delAG
	ENST00000493919.6:c.-21_-22delAG
	ENST00000497488.2:c.-219+1241_-219+1240delAG
	ENST00000586385.5:c.4+1151_4+1152delAG
	ENST00000591534.5:c.-44+1241_-44+1240delAG
	ENST00000591849.5:c.-99+1241_-99+1240delAG
	ENST00000618469.2:c.66_67delAG	ENST00000618469.2:p.Glu23ValfsTer17
	ENST00000634433.2:c.66_67delAG	ENST00000634433.2:p.Glu23ValfsTer17
	ENST00000644379.2:c.66_67delAG	ENST00000644379.2:p.Glu23ValfsTer17
	ENST00000644555.2:c.-220_-221delAG
	ENST00000700182.1:c.66_67delAG	ENST00000700182.1:p.Glu23ValfsTer17
	ENST00000713676.1:c.66_67delAG	ENST00000713676.1:p.Glu23ValfsTer17

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

BRCA1

Type	Database	ID	Link
Gene	MIM	113705	OMIM
	HGNC	1100	HGNC
	Ensembl	ENSG00000012048	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv229968221	TogoVar
	COSMIC	COSM35893	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.360	Breast-ovarian cancer, familial, susceptibility to, 1	NA	CLINVAR		Detail
0.196	Breast Cancer, Familial	NA	CLINVAR		Detail
0.126	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail
0.420	Hereditary Breast and Ovarian Cancer Syndrome	NA	CLINVAR		Detail
<0.001	renal cell carcinoma	We report the first tumor study of renal cell carcinoma in a carrier of the dele...	BeFree	23086583	Detail
0.120	Pancreatic cancer, susceptibility to, 4	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
We report the first tumor study of renal cell carcinoma in a carrier of the deleterious BRCA1 mutati...	DisGeNET	Detail
NA	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
Genome: hg38
Position: chr17:43,124,030-43,124,031
Variant Type: snv
Reference Allele: CT
Alternative Allele: -
East Asian Chromosome Counts (ExAC): 8640
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 120972
Allele Counts in All Race (ExAC): 29
Heterozygous Counts in All Race (ExAC): 29
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 2.3972489501702872E-4

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